Polygenic Score (PGS) ID: PGS002662

Predicted Trait
Reported Trait Red blood cell count
Mapped Trait(s) erythrocyte count (EFO_0004305)
Released in PGS Catalog: June 9, 2022
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Score Details

Score Construction
PGS Name blood_RED_COUNT.PolyFun-pred
Development Method
Name PolyFun-pred
Parameters NR
Variants
Original Genome Build GRCh37
Number of Variants 473,515
Effect Weight Type beta
PGS Source
PGS Catalog Publication (PGP) ID PGP000332
Citation (link to publication) Weissbrod O et al. Nat Genet (2022)
Ancestry Distribution
Source of Variant
Associations (GWAS)
European: 100%
327,209 individuals (100%)
PGS Evaluation
African: 25%
East Asian: 25%
European: 25%
South Asian: 25%
4 Sample Sets

Development Samples

Source of Variant Associations (GWAS)
Study Identifiers Sample Numbers Sample Ancestry Cohort(s)
— 327,209 individuals European UKB

Performance Metrics

Disclaimer: The performance metrics are displayed as reported by the source studies. It is important to note that metrics are not necessarily comparable with each other. For example, metrics depend on the sample characteristics (described by the PGS Catalog Sample Set [PSS] ID), phenotyping, and statistical modelling. Please refer to the source publication for additional guidance on performance.

PGS Performance
Metric ID (PPM) 		PGS Sample Set ID
(PSS) 		Performance Source Trait PGS Effect Sizes
(per SD change) 		Classification Metrics Other Metrics Covariates Included in the Model PGS Performance:
Other Relevant Information
PPM014427 PSS009824|
East Asian Ancestry|
885 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Red Blood Cell Count — — Incremental R2 (full model when combined with BOLT-LMM vs. covariates alone): 0.0976 age, sex, age*sex, assessment center, genotyping array, 10 PCs See blood_RED_COUNT.mixweights file at http://data.broadinstitute.org/alkesgroup/polypred_results for combination weights
PPM014476 PSS009825|
European Ancestry|
42,065 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Red Blood Cell Count — — Incremental R2 (full model when combined with BOLT-LMM vs. covariates alone): 0.1679 age, sex, age*sex, assessment center, genotyping array, 10 PCs See blood_RED_COUNT.mixweights file at http://data.broadinstitute.org/alkesgroup/polypred_results for combination weights
PPM014525 PSS009826|
South Asian Ancestry|
7,707 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Red Blood Cell Count — — Incremental R2 (full model when combined with BOLT-LMM vs. covariates alone): 0.1044 age, sex, age*sex, assessment center, genotyping array, 10 PCs See blood_RED_COUNT.mixweights file at http://data.broadinstitute.org/alkesgroup/polypred_results for combination weights
PPM014378 PSS009823|
African Ancestry|
6,120 individuals
 PGP000332 |
Weissbrod O et al. Nat Genet (2022)
 Reported Trait: Red Blood Cell Count — — Incremental R2 (full model when combined with BOLT-LMM vs. covariates alone): 0.0299 age, sex, age*sex, assessment center, genotyping array, 10 PCs See blood_RED_COUNT.mixweights file at http://data.broadinstitute.org/alkesgroup/polypred_results for combination weights

Evaluated Samples

PGS Sample Set ID
(PSS) 		Phenotype Definitions and Methods Participant Follow-up Time Sample Numbers Age of Study Participants Sample Ancestry Additional Ancestry Description Cohort(s) Additional Sample/Cohort Information
PSS009823 — — 6,120 individuals — African unspecified — UKB —
PSS009824 — — 885 individuals — East Asian — UKB —
PSS009825 — — 42,065 individuals — European Non-British European UKB —
PSS009826 — — 7,707 individuals — South Asian — UKB —